Abstract
The first child of consanguineous parents died at the age of 6 months in renal failure due to oxalosis despite treatment with pyridoxine since the age of 4 months.
The 3rd child of this family was found to have hyperoxalaria type I at the age of 3 weeks:plasma oxalate 60/umol/l (n:3-23),plasma glycollate 1157/umol/l (n:7-33),urinary oxalate 1650 mmol/mol creat.(n:15-85),urinary glycollate 463 mmol/mol creat. (n: 25-164),inuline clearance (IC) 32 ml/nin/1,73m2,creatinine clearance (CC) 28 ml/min/1,73 m2, normal i.v.pyelography and ultrasound investigation of the kidneys.
Treatment consisted of pyridoxine-HCl(100-1000 mg/d), magnesiumoxide(0.25-0.8 mmol/kg/d) and a high oral fluid intake also by nocturnal gastric drip.
Treatment was complicated by encephalopathy during high pyridoxine dosage. Dosis reduction (400mg/d) resulted in normalisation.
At the age of 1 year there are slight signs of renal calcification on ultrasound. However, renal function is near normal : IC 69 ml/min/1.73m2,CC 96 ml/min/1.73m2.
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de Zegher, F., Chalmers, R., Blom, W. et al. ONE YEAR SUCCESSFUL TREATMENT OF INFANTILE PRIMARY HYPEROXALURIA TYPE I. Pediatr Res 19, 1082 (1985). https://doi.org/10.1203/00006450-198510000-00084
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DOI: https://doi.org/10.1203/00006450-198510000-00084